Canonical Allele Identifier: CA414844657
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708039G>T , CM000686.2:g.19708039G>T GRCh38
NC_000024.9:g.21869925G>T , CM000686.1:g.21869925G>T GRCh37
NC_000024.8:g.20329313G>T NCBI36
NG_032920.1:g.41901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3294C>A MANE Select ENSP00000322408.4:p.Asp1098Glu
ENST00000317961.8:c.3294C>A ENSP00000322408.4:p.Asp1098Glu
ENST00000382806.6:c.3123C>A ENSP00000372256.2:p.Asp1041Glu
ENST00000415360.1:c.210C>A ENSP00000389433.1:p.Asp70Glu
ENST00000440077.5:c.3171C>A ENSP00000398543.1:p.Asp1057Glu
ENST00000469599.6:n.1892C>A
ENST00000492117.1:n.3186C>A
ENST00000541639.5:c.3387C>A ENSP00000444293.1:p.Asp1129Glu
NM_001146705.1:c.3387C>A NP_001140177.1:p.Asp1129Glu
NM_001146706.1:c.3123C>A NP_001140178.1:p.Asp1041Glu
NM_004653.4:c.3294C>A NP_004644.2:p.Asp1098Glu
XM_005262560.1:c.3159C>A XP_005262617.1:p.Asp1053Glu
XM_005262561.1:c.3063C>A XP_005262618.1:p.Asp1021Glu
XM_011531468.1:c.3216C>A XP_011529770.1:p.Asp1072Glu
XR_244571.2:n.3582C>A
XR_430568.2:n.3916C>A
XM_005262560.3:c.3159C>A XP_005262617.1:p.Asp1053Glu
XM_005262561.3:c.3063C>A XP_005262618.1:p.Asp1021Glu
XM_011531468.3:c.3216C>A XP_011529770.1:p.Asp1072Glu
XM_024452495.1:c.1284C>A XP_024308263.1:p.Asp428Glu
XM_024452496.1:c.1050C>A XP_024308264.1:p.Asp350Glu
XR_001756009.2:n.4032C>A
XR_001756010.2:n.4032C>A
XR_001756011.2:n.3897C>A
XR_001756012.2:n.4045C>A
XR_001756013.2:n.3363C>A
XR_002958832.1:n.3464C>A
XR_002958834.1:n.3688C>A
XR_002958835.1:n.3571C>A
XR_002958836.1:n.4254C>A
XR_002958837.1:n.4061C>A
XR_244571.4:n.3581C>A
XR_430568.4:n.3915C>A
NM_001146706.2:c.3123C>A NP_001140178.1:p.Asp1041Glu
NM_004653.5:c.3294C>A MANE Select NP_004644.2:p.Asp1098Glu
NM_001146705.2:c.3387C>A NP_001140177.1:p.Asp1129Glu